Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536310_42536311insC , CM000679.2:g.42536310_42536311insC | GRCh38 |
| NC_000017.10:g.40688328_40688329insC , CM000679.1:g.40688328_40688329insC | GRCh37 |
| NC_000017.9:g.37941854_37941855insC | NCBI36 |
| NG_011552.1:g.5378_5379insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.38_39insC MANE Select | ENSP00000225927.1:p.Leu14SerfsTer? | |
| ENST00000225927.6:c.38_39insC | ENSP00000225927.1:p.Leu14SerfsTer? | |
| NM_000263.3:c.38_39insC | NP_000254.2:p.Leu14SerfsTer? | |
| XM_024450771.1:c.38_39insC | XP_024306539.1:p.Leu14SerfsTer? | |
| NM_000263.4:c.38_39insC MANE Select | NP_000254.2:p.Leu14SerfsTer? |